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Multidisciplinary Management of Fabry Disease: Current Perspectives
Fabry disease (FD) is a rare, recessive X-linked, multisystemic lysosomal storage disorder (LSD) that results from a deficiency in the hydrolase alpha-galactosidase A (α-GalA) caused by a GLA gene variant. The progressive accumulation of the glycosphingolipid globotriaosylceramide (Gb3) in organs su...
Autores principales: | Paim-Marques, Luciana, de Oliveira, Rodrigo Joel, Appenzeller, Simone |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922235/ https://www.ncbi.nlm.nih.gov/pubmed/35300178 http://dx.doi.org/10.2147/JMDH.S290580 |
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